Canonical Allele Identifier: CA2739724543

Gene: PCIF1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45947988C>G , CM000682.2:g.45947988C>G	GRCh38
NC_000020.10:g.44576627C>G , CM000682.1:g.44576627C>G	GRCh37
NC_000020.9:g.44010034C>G	NCBI36
NG_029772.1:g.29207G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372409.8:c.*233C>G MANE Select	ENSP00000361486.3:n.*233C>G
ENST00000372409.7:c.*233C>G	ENSP00000361486.3:n.*233C>G
ENST00000479348.2:c.1289C>G
NM_022104.3:c.*233C>G	NP_071387.1:n.*233C>G
XM_011528980.1:c.*233C>G	XP_011527282.1:n.*233C>G
XM_011528981.1:c.*233C>G	XP_011527283.1:n.*233C>G
XM_011528982.1:c.*233C>G	XP_011527284.1:n.*233C>G
XM_011528980.3:c.*233C>G	XP_011527282.1:n.*233C>G
XM_011528981.3:c.*233C>G	XP_011527283.1:n.*233C>G
XM_017028013.2:c.*233C>G	XP_016883502.1:n.*233C>G
XM_017028014.2:c.*233C>G	XP_016883503.1:n.*233C>G
NM_022104.4:c.*233C>G MANE Select	NP_071387.1:n.*233C>G